Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Fetal anomalies v3.124 | CNBP_CCTG | Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.111 | C1QBP |
Eleanor Williams Tag Q2_23_promote_green was removed from gene: C1QBP. Tag Q2_23_NHS_review was removed from gene: C1QBP. |
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Fetal anomalies v3.111 | ECHS1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1. Tag Q2_23_NHS_review was removed from gene: ECHS1. |
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Fetal anomalies v3.111 | GATB |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: GATB. Tag Q2_23_NHS_review was removed from gene: GATB. |
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Fetal anomalies v3.111 | IBA57 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: IBA57. Tag Q2_23_NHS_review was removed from gene: IBA57. |
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Fetal anomalies v3.111 | KIF21A |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: KIF21A. Tag Q2_23_NHS_review was removed from gene: KIF21A. |
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Fetal anomalies v3.111 | MECOM |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: MECOM. Tag Q2_23_NHS_review was removed from gene: MECOM. |
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Fetal anomalies v3.111 | MTFMT |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: MTFMT. Tag Q2_23_NHS_review was removed from gene: MTFMT. |
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Fetal anomalies v3.111 | NDUFA6 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6. Tag Q2_23_NHS_review was removed from gene: NDUFA6. |
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Fetal anomalies v3.111 | NDUFAF8 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFAF8. Tag Q2_23_NHS_review was removed from gene: NDUFAF8. |
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Fetal anomalies v3.111 | NDUFB10 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB10. Tag Q2_23_NHS_review was removed from gene: NDUFB10. |
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Fetal anomalies v3.111 | NDUFB3 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3. Tag Q2_23_NHS_review was removed from gene: NDUFB3. |
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Fetal anomalies v3.111 | NDUFS1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFS1. Tag Q2_23_NHS_review was removed from gene: NDUFS1. |
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Fetal anomalies v3.111 | PC |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PC. Tag Q2_23_NHS_review was removed from gene: PC. |
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Fetal anomalies v3.111 | PDHB |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB. Tag Q2_23_NHS_review was removed from gene: PDHB. |
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Fetal anomalies v3.111 | PDHX |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX. Tag Q2_23_NHS_review was removed from gene: PDHX. |
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Fetal anomalies v3.111 | PET100 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PET100. Tag Q2_23_NHS_review was removed from gene: PET100. |
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Fetal anomalies v3.111 | PNPLA8 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PNPLA8. Tag Q2_23_NHS_review was removed from gene: PNPLA8. |
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Fetal anomalies v3.111 | QRSL1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: QRSL1. Tag Q2_23_NHS_review was removed from gene: QRSL1. |
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Fetal anomalies v3.111 | RAB11A |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: RAB11A. Tag Q2_23_NHS_review was removed from gene: RAB11A. |
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Fetal anomalies v3.111 | RMND1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: RMND1. Tag Q2_23_NHS_review was removed from gene: RMND1. |
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Fetal anomalies v3.111 | SCUBE3 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3. Tag Q2_23_NHS_review was removed from gene: SCUBE3. |
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Fetal anomalies v3.111 | SLC25A46 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46. Tag Q2_23_NHS_review was removed from gene: SLC25A46. |
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Fetal anomalies v3.111 | TK2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2. Tag Q2_23_NHS_review was removed from gene: TK2. |
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Fetal anomalies v3.111 | UQCRFS1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1. Tag Q2_23_NHS_review was removed from gene: UQCRFS1. |
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Fetal anomalies v3.111 | ZMYM2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: ZMYM2. Tag Q2_23_NHS_review was removed from gene: ZMYM2. |
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Fetal anomalies v3.111 | EARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2. Tag Q2_23_NHS_review was removed from gene: EARS2. |
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Fetal anomalies v3.111 | DNA2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNA2. Tag Q2_23_NHS_review was removed from gene: DNA2. |
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Fetal anomalies v3.111 | DARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2. Tag Q2_23_NHS_review was removed from gene: DARS2. |
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Fetal anomalies v3.111 | COQ7 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: COQ7. Tag Q2_23_NHS_review was removed from gene: COQ7. |
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Fetal anomalies v3.111 | CLCN4 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: CLCN4. Tag Q2_23_NHS_review was removed from gene: CLCN4. |
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Fetal anomalies v3.111 | CLCN4 | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.111 | C19orf70 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70. Tag Q2_23_NHS_review was removed from gene: C19orf70. |
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Fetal anomalies v3.111 | ATP5O |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O. |
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Fetal anomalies v3.111 | AGTR1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1. Tag Q2_23_NHS_review was removed from gene: AGTR1. |
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Fetal anomalies v3.111 | AARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2. Tag Q2_23_NHS_review was removed from gene: AARS2. |
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Fetal anomalies v3.111 | SCUBE3 | Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | ZMYM2 |
Sarah Leigh Source Expert Review Green was added to ZMYM2. Source NHS GMS was added to ZMYM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | WLS |
Sarah Leigh Source Expert Review Green was added to WLS. Source NHS GMS was added to WLS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | UQCRFS1 |
Sarah Leigh Source Expert Review Green was added to UQCRFS1. Source NHS GMS was added to UQCRFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | TK2 |
Sarah Leigh Source Expert Review Green was added to TK2. Source NHS GMS was added to TK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | SLC25A46 |
Sarah Leigh Source Expert Review Green was added to SLC25A46. Source NHS GMS was added to SLC25A46. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | SCUBE3 |
Sarah Leigh Source Expert Review Green was added to SCUBE3. Source NHS GMS was added to SCUBE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | RMND1 |
Sarah Leigh Source Expert Review Green was added to RMND1. Source NHS GMS was added to RMND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | RAB11A |
Sarah Leigh Source Expert Review Green was added to RAB11A. Source NHS GMS was added to RAB11A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | QRSL1 |
Sarah Leigh Source Expert Review Green was added to QRSL1. Source NHS GMS was added to QRSL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PRKACB |
Sarah Leigh Source Expert Review Green was added to PRKACB. Source NHS GMS was added to PRKACB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PRKACA |
Sarah Leigh Source Expert Review Green was added to PRKACA. Source NHS GMS was added to PRKACA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PNPLA8 |
Sarah Leigh Source Expert Review Green was added to PNPLA8. Source NHS GMS was added to PNPLA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PLXND1 |
Sarah Leigh Source Expert Review Green was added to PLXND1. Source NHS GMS was added to PLXND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PET100 |
Sarah Leigh Source Expert Review Green was added to PET100. Source NHS GMS was added to PET100. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PDHX |
Sarah Leigh Source Expert Review Green was added to PDHX. Source NHS GMS was added to PDHX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PDHB |
Sarah Leigh Source Expert Review Green was added to PDHB. Source NHS GMS was added to PDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | PC |
Sarah Leigh Source Expert Review Green was added to PC. Source NHS GMS was added to PC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | NDUFS1 |
Sarah Leigh Source Expert Review Green was added to NDUFS1. Source NHS GMS was added to NDUFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | NDUFB3 |
Sarah Leigh Source Expert Review Green was added to NDUFB3. Source NHS GMS was added to NDUFB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | NDUFB10 |
Sarah Leigh Source Expert Review Green was added to NDUFB10. Source NHS GMS was added to NDUFB10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | NDUFAF8 |
Sarah Leigh Source Expert Review Green was added to NDUFAF8. Source NHS GMS was added to NDUFAF8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | NDUFA6 |
Sarah Leigh Source Expert Review Green was added to NDUFA6. Source NHS GMS was added to NDUFA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | MYL9 |
Sarah Leigh Source Expert Review Green was added to MYL9. Source NHS GMS was added to MYL9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | MTFMT |
Sarah Leigh Source Expert Review Green was added to MTFMT. Source NHS GMS was added to MTFMT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | MECOM |
Sarah Leigh Source Expert Review Green was added to MECOM. Source NHS GMS was added to MECOM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | KDM5C |
Sarah Leigh Source NHS GMS was added to KDM5C. Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Fetal anomalies v3.110 | IBA57 |
Sarah Leigh Source Expert Review Green was added to IBA57. Source NHS GMS was added to IBA57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | GATB |
Sarah Leigh Source Expert Review Green was added to GATB. Source NHS GMS was added to GATB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | ECHS1 |
Sarah Leigh Source Expert Review Green was added to ECHS1. Source NHS GMS was added to ECHS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | EARS2 |
Sarah Leigh Source Expert Review Green was added to EARS2. Source NHS GMS was added to EARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | DNA2 |
Sarah Leigh Source Expert Review Green was added to DNA2. Source NHS GMS was added to DNA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | DARS2 |
Sarah Leigh Source Expert Review Green was added to DARS2. Source NHS GMS was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | COQ7 |
Sarah Leigh Source Expert Review Green was added to COQ7. Source NHS GMS was added to COQ7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | CLCN4 |
Sarah Leigh Source Expert Review Green was added to CLCN4. Source NHS GMS was added to CLCN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | CDX2 |
Sarah Leigh Source Expert Review Green was added to CDX2. Source NHS GMS was added to CDX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | C1QBP |
Sarah Leigh Source Expert Review Green was added to C1QBP. Source NHS GMS was added to C1QBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | C19orf70 |
Sarah Leigh Source Expert Review Green was added to C19orf70. Source NHS GMS was added to C19orf70. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | ATP5O |
Sarah Leigh Source Expert Review Green was added to ATP5O. Source NHS GMS was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | AGTR1 |
Sarah Leigh Source Expert Review Green was added to AGTR1. Source NHS GMS was added to AGTR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.79 | SCUBE3 |
Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: SCUBE3. Tag Q3_22_rating was removed from gene: SCUBE3. Tag Q3_22_expert_review was removed from gene: SCUBE3. |
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Fetal anomalies v3.78 | RAB11A |
Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: RAB11A. Tag Q3_22_rating was removed from gene: RAB11A. Tag Q3_22_expert_review was removed from gene: RAB11A. |
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Fetal anomalies v3.78 | MRPS14 |
Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: MRPS14. Tag Q2_23_promote_green was removed from gene: MRPS14. Tag Q2_23_NHS_review was removed from gene: MRPS14. |
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Fetal anomalies v3.78 | GATB | Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: GATB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.72 | SCUBE3 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SCUBE3. Tag Q2_23_NHS_review tag was added to gene: SCUBE3. |
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Fetal anomalies v3.72 | RAB11A |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RAB11A. Tag Q2_23_NHS_review tag was added to gene: RAB11A. |
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Fetal anomalies v3.72 | ZMYM2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ZMYM2. Tag Q2_23_NHS_review tag was added to gene: ZMYM2. |
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Fetal anomalies v3.70 | AGTR1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AGTR1. Tag Q2_23_NHS_review tag was added to gene: AGTR1. |
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Fetal anomalies v3.70 | CLCN4 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CLCN4. Tag Q2_23_NHS_review tag was added to gene: CLCN4. |
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Fetal anomalies v3.68 | MECOM |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MECOM. Tag Q2_23_NHS_review tag was added to gene: MECOM. |
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Fetal anomalies v3.65 | UQCRFS1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: UQCRFS1. Tag Q2_23_NHS_review tag was added to gene: UQCRFS1. |
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Fetal anomalies v3.60 | TK2 |
Arina Puzriakova Tag watchlist was removed from gene: TK2. Tag Q2_23_promote_green tag was added to gene: TK2. Tag Q2_23_NHS_review tag was added to gene: TK2. |
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Fetal anomalies v3.58 | SLC25A46 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SLC25A46. Tag Q2_23_NHS_review tag was added to gene: SLC25A46. |
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Fetal anomalies v3.53 | RMND1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RMND1. Tag Q2_23_NHS_review tag was added to gene: RMND1. |
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Fetal anomalies v3.52 | QRSL1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: QRSL1. Tag Q2_23_NHS_review tag was added to gene: QRSL1. |
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Fetal anomalies v3.49 | PNPLA8 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PNPLA8. Tag Q2_23_NHS_review tag was added to gene: PNPLA8. |
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Fetal anomalies v3.47 | PET100 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PET100. Tag Q2_23_NHS_review tag was added to gene: PET100. |
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Fetal anomalies v3.45 | PDHX |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHX. Tag Q2_23_NHS_review tag was added to gene: PDHX. |
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Fetal anomalies v3.44 | PDHB |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHB. Tag Q2_23_NHS_review tag was added to gene: PDHB. |
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Fetal anomalies v3.42 | PC |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PC. Tag Q2_23_NHS_review tag was added to gene: PC. |
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Fetal anomalies v3.39 | NDUFS1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFS1. Tag Q2_23_NHS_review tag was added to gene: NDUFS1. |
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Fetal anomalies v3.36 | NDUFB3 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB3. Tag Q2_23_NHS_review tag was added to gene: NDUFB3. |
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Fetal anomalies v3.34 | NDUFB10 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB10. Tag Q2_23_NHS_review tag was added to gene: NDUFB10. |
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Fetal anomalies v3.33 | NDUFAF8 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFAF8. Tag Q2_23_NHS_review tag was added to gene: NDUFAF8. |
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Fetal anomalies v3.32 | NDUFA6 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFA6. Tag Q2_23_NHS_review tag was added to gene: NDUFA6. |
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Fetal anomalies v3.28 | MTFMT |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MTFMT. Tag Q2_23_NHS_review tag was added to gene: MTFMT. |
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Fetal anomalies v3.27 | MRPS14 |
Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MRPS14. Tag Q2_23_promote_green tag was added to gene: MRPS14. Tag Q2_23_NHS_review tag was added to gene: MRPS14. |
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Fetal anomalies v3.24 | IBA57 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IBA57. Tag Q2_23_NHS_review tag was added to gene: IBA57. |
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Fetal anomalies v3.22 | GATB |
Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: GATB. Tag Q2_23_promote_green tag was added to gene: GATB. Tag Q2_23_NHS_review tag was added to gene: GATB. |
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Fetal anomalies v3.21 | ECHS1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ECHS1. Tag Q2_23_NHS_review tag was added to gene: ECHS1. |
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Fetal anomalies v3.20 | EARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: EARS2. Tag Q2_23_NHS_review tag was added to gene: EARS2. |
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Fetal anomalies v3.19 | DNA2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DNA2. Tag Q2_23_NHS_review tag was added to gene: DNA2. |
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Fetal anomalies v3.16 | DARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DARS2. Tag Q2_23_NHS_review tag was added to gene: DARS2. |
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Fetal anomalies v3.14 | COQ7 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COQ7. Tag Q2_23_NHS_review tag was added to gene: COQ7. |
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Fetal anomalies v3.13 | COA6 |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: COA6. Tag Q2_23_NHS_review was removed from gene: COA6. |
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Fetal anomalies v3.13 | COA6 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COA6. Tag Q2_23_NHS_review tag was added to gene: COA6. |
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Fetal anomalies v3.12 | C1QBP |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C1QBP. Tag Q2_23_NHS_review tag was added to gene: C1QBP. |
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Fetal anomalies v3.11 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O. |
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Fetal anomalies v3.11 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O. Tag new-gene-name tag was added to gene: ATP5O. |
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Fetal anomalies v3.11 | C19orf70 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C19orf70. Tag Q2_23_NHS_review tag was added to gene: C19orf70. |
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Fetal anomalies v3.10 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O. |
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Fetal anomalies v3.10 | AARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AARS2. Tag Q2_23_NHS_review tag was added to gene: AARS2. |
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Fetal anomalies v3.4 | AAAS | Arina Puzriakova Added comment: Comment on list classification: Maintaining Green rating as this gene was previously determined to be appropriate for this panel by the NHS GMS Fetal expert group at GOSH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.2 | KIF21A |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to recommend this gene to NHS GMS for promoting to green rating. There are two unrelated families with homozygous loss of function variants in KIF21A were reported with severe fetal akinesia with arthrogryposis multiplex in PMID:34740919. Hannah Robinson (South West Genomic Laboratory Hub) reported an additional case identified in Exeter Genomics Laboratory exhibiting homozygous nonsense variant in KIF21A and was diagnosed with arthrogryposis. In addition, PMID:32686171 reports overlapping phenotypes observed in KIF21A null piglets, where a 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita. |
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Fetal anomalies v3.1 | KIF21A |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: KIF21A. Tag Q2_23_NHS_review tag was added to gene: KIF21A. |
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Fetal anomalies v3.1 | AARS2 |
Patrick Campbell gene: AARS2 was added gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 30819764 Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy Penetrance for gene: AARS2 were set to Complete Mode of pathogenicity for gene: AARS2 was set to Other Review for gene: AARS2 was set to GREEN Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy. Consideration should be given to adding the gene to R21. Sources: NHS GMS |
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Fetal anomalies v2.10 | SCUBE3 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | RAB11A | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: RAB11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | MED12 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | LIFR | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: LIFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | WNT7B |
Arina Puzriakova Tag Q3_22_rating was removed from gene: WNT7B. Tag Q3_22_NHS_review was removed from gene: WNT7B. |
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Fetal anomalies v2.10 | TMEM70 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM70. Tag Q3_22_NHS_review was removed from gene: TMEM70. |
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Fetal anomalies v2.10 | SETD2 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2. Tag Q3_22_NHS_review was removed from gene: SETD2. |
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Fetal anomalies v2.10 | PLD1 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: PLD1. Tag Q3_22_NHS_review was removed from gene: PLD1. |
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Fetal anomalies v2.10 | NDUFB11 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: NDUFB11. Tag Q3_22_NHS_review was removed from gene: NDUFB11. |
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Fetal anomalies v2.10 | MED13L |
Arina Puzriakova Tag Q3_22_rating was removed from gene: MED13L. Tag Q3_22_NHS_review was removed from gene: MED13L. |
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Fetal anomalies v2.10 | KIDINS220 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | EDA |
Arina Puzriakova Tag Q3_22_rating was removed from gene: EDA. Tag Q3_22_NHS_review was removed from gene: EDA. |
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Fetal anomalies v2.10 | DMPK_CTG | Arina Puzriakova commented on STR: DMPK_CTG: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | SCUBE3 | Arina Puzriakova commented on gene: SCUBE3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | KIDINS220 | Arina Puzriakova commented on gene: KIDINS220: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to Green. However, the mode of inheritance of 'BIALLELIC, autosomal or pseudoautosomal' was approved following NHS Genomic Medicine Service consideration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | WNT7B | Arina Puzriakova edited their review of gene: WNT7B: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | TMEM70 | Arina Puzriakova edited their review of gene: TMEM70: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | SYNE1 | Arina Puzriakova commented on gene: SYNE1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | SLC20A1 | Arina Puzriakova edited their review of gene: SLC20A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | SETD2 | Arina Puzriakova edited their review of gene: SETD2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | RAC3 | Arina Puzriakova edited their review of gene: RAC3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | PLD1 | Arina Puzriakova edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | OTUD5 | Arina Puzriakova commented on gene: OTUD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | NDUFB11 | Arina Puzriakova edited their review of gene: NDUFB11: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | MTM1 | Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | MED13L | Arina Puzriakova edited their review of gene: MED13L: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | LARS2 | Arina Puzriakova commented on gene: LARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | HSF4 | Arina Puzriakova commented on gene: HSF4: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | EDA | Arina Puzriakova edited their review of gene: EDA: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | DPH1 | Arina Puzriakova commented on gene: DPH1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | DMPK | Arina Puzriakova edited their review of gene: DMPK: Added comment: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | CYP11B1 | Arina Puzriakova commented on gene: CYP11B1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | CYP11A1 | Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | CRYBB3 | Arina Puzriakova commented on gene: CRYBB3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | COL6A3 | Arina Puzriakova commented on gene: COL6A3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | COL6A1 | Arina Puzriakova commented on gene: COL6A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | CLPB | Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | CLCN7 | Arina Puzriakova commented on gene: CLCN7: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | ATAD3A | Arina Puzriakova commented on gene: ATAD3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | AP1S2 | Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.9 | WNT7B |
Arina Puzriakova Source Expert Review Green was added to WNT7B. Source NHS GMS was added to WNT7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | WBP11 |
Arina Puzriakova Source Expert Review Green was added to WBP11. Source NHS GMS was added to WBP11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | TMEM70 |
Arina Puzriakova Source Expert Review Green was added to TMEM70. Source NHS GMS was added to TMEM70. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | TMEM260 |
Arina Puzriakova Source Expert Review Green was added to TMEM260. Source NHS GMS was added to TMEM260. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | TLL1 |
Arina Puzriakova Source Expert Review Green was added to TLL1. Source NHS GMS was added to TLL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | SYNE1 |
Arina Puzriakova Source Expert Review Green was added to SYNE1. Source NHS GMS was added to SYNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | SLC20A1 |
Arina Puzriakova Source Expert Review Green was added to SLC20A1. Source NHS GMS was added to SLC20A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | SLC12A6 |
Arina Puzriakova Source NHS GMS was added to SLC12A6. Mode of inheritance for gene SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | SETD2 |
Arina Puzriakova Source Expert Review Green was added to SETD2. Source NHS GMS was added to SETD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | PLD1 |
Arina Puzriakova Source Expert Review Green was added to PLD1. Source NHS GMS was added to PLD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | PLCB4 |
Arina Puzriakova Source Expert Review Green was added to PLCB4. Source NHS GMS was added to PLCB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | PEX6 |
Arina Puzriakova Source NHS GMS was added to PEX6. Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | OTUD5 |
Arina Puzriakova Source Expert Review Green was added to OTUD5. Source NHS GMS was added to OTUD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | NDUFB11 |
Arina Puzriakova Source Expert Review Green was added to NDUFB11. Source NHS GMS was added to NDUFB11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | MYH6 |
Arina Puzriakova Source NHS GMS was added to MYH6. Mode of inheritance for gene MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | MTM1 |
Arina Puzriakova Source NHS GMS was added to MTM1. Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Fetal anomalies v2.9 | MED13L |
Arina Puzriakova Source Expert Review Green was added to MED13L. Source NHS GMS was added to MED13L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | LTBP3 |
Arina Puzriakova Source NHS GMS was added to LTBP3. Mode of inheritance for gene LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | LARS2 |
Arina Puzriakova Source Expert Review Green was added to LARS2. Source NHS GMS was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | KIDINS220 | Arina Puzriakova Source NHS GMS was added to KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.9 | HSF4 |
Arina Puzriakova Source NHS GMS was added to HSF4. Mode of inheritance for gene HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | GRIN1 |
Arina Puzriakova Source NHS GMS was added to GRIN1. Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | FBN2 |
Arina Puzriakova Source NHS GMS was added to FBN2. Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | EHBP1L1 |
Arina Puzriakova Source Expert Review Green was added to EHBP1L1. Source NHS GMS was added to EHBP1L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | EDNRB |
Arina Puzriakova Source NHS GMS was added to EDNRB. Mode of inheritance for gene EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | EDA |
Arina Puzriakova Source Expert Review Red was added to EDA. Source NHS GMS was added to EDA. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v2.9 | DPH1 |
Arina Puzriakova Source Expert Review Green was added to DPH1. Source NHS GMS was added to DPH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.9 | DMPK |
Arina Puzriakova Source Expert Review Red was added to DMPK. Source NHS GMS was added to DMPK. Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v2.9 | CYP11B1 |
Arina Puzriakova Source NHS GMS was added to CYP11B1. Mode of inheritance for gene CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | CYP11A1 |
Arina Puzriakova Source NHS GMS was added to CYP11A1. Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | CRYBB3 |
Arina Puzriakova Source NHS GMS was added to CRYBB3. Mode of inheritance for gene CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | COL6A3 |
Arina Puzriakova Source NHS GMS was added to COL6A3. Mode of inheritance for gene COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | COL6A1 |
Arina Puzriakova Source NHS GMS was added to COL6A1. Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | COL1A2 |
Arina Puzriakova Source NHS GMS was added to COL1A2. Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Fetal anomalies v2.9 | CLPB |
Arina Puzriakova Source NHS GMS was added to CLPB. Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | CLCN7 |
Arina Puzriakova Source NHS GMS was added to CLCN7. Mode of inheritance for gene CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | BHLHA9 |
Arina Puzriakova Source NHS GMS was added to BHLHA9. Mode of inheritance for gene BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | ATAD3A |
Arina Puzriakova Source NHS GMS was added to ATAD3A. Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Fetal anomalies v2.9 | AP1S2 |
Arina Puzriakova Source NHS GMS was added to AP1S2. Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Fetal anomalies v2.8 | KIF21A |
Hannah Robinson gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to 34740919 Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia Penetrance for gene: KIF21A were set to unknown Review for gene: KIF21A was set to GREEN gene: KIF21A was marked as current diagnostic Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms. Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth. Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association. Sources: Literature, NHS GMS |
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Fetal anomalies v1.964 | SETD2 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: SETD2. Tag Q3_22_NHS_review tag was added to gene: SETD2. |
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Fetal anomalies v1.930 | EDA |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: EDA. Tag Q3_22_NHS_review tag was added to gene: EDA. |
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Fetal anomalies v1.904 | WNT7B |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: WNT7B. Tag Q3_22_NHS_review tag was added to gene: WNT7B. |
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Fetal anomalies v1.897 | TMEM70 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TMEM70. Tag Q3_22_NHS_review tag was added to gene: TMEM70. |
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Fetal anomalies v1.890 | PLD1 | Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: PLD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.883 | NDUFB11 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB11. Tag Q3_22_NHS_review tag was added to gene: NDUFB11. |
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Fetal anomalies v1.882 | MED13L |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: MED13L. Tag Q3_22_NHS_review tag was added to gene: MED13L. |
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Fetal anomalies v1.859 | DISP1 | Arina Puzriakova commented on gene: DISP1: Added 'watchlist' tag as inclusion of this gene on the R85 Holoprosencephaly panel is currently under GMS review (TBC_NHSE) and the final decision should also be reflected on this panel once determined. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.842 | NEK9 | Arina Puzriakova commented on gene: NEK9: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.840 | DMPK_CTG |
Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG. |
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Fetal anomalies v1.840 | CNBP_CCTG |
Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27. Source NHS GMS was added to STR: CNBP_CCTG. |
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Fetal anomalies v1.838 | PRRX1 | Arina Puzriakova commented on gene: PRRX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TRAPPC12 | Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | WDR81 | Arina Puzriakova commented on gene: WDR81: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | USP18 | Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TRAPPC12 | Arina Puzriakova commented on gene: TRAPPC12: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TOR1A | Arina Puzriakova commented on gene: TOR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TOE1 | Arina Puzriakova commented on gene: TOE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TNNT3 | Arina Puzriakova commented on gene: TNNT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TMX2 | Arina Puzriakova commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TMEM98 | Arina Puzriakova commented on gene: TMEM98: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TMEM38B | Arina Puzriakova commented on gene: TMEM38B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TMEM216 | Arina Puzriakova commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TMEM107 | Arina Puzriakova commented on gene: TMEM107: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TENM3 | Arina Puzriakova commented on gene: TENM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TELO2 | Arina Puzriakova commented on gene: TELO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TCTEX1D2 | Arina Puzriakova commented on gene: TCTEX1D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | TBC1D32 | Arina Puzriakova commented on gene: TBC1D32: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SULT2B1 | Arina Puzriakova commented on gene: SULT2B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SUFU | Arina Puzriakova commented on gene: SUFU: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | STRADA | Arina Puzriakova commented on gene: STRADA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | STIL | Arina Puzriakova commented on gene: STIL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | STAC3 | Arina Puzriakova commented on gene: STAC3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ST14 | Arina Puzriakova commented on gene: ST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SPECC1L | Arina Puzriakova commented on gene: SPECC1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SPARC | Arina Puzriakova commented on gene: SPARC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SP7 | Arina Puzriakova commented on gene: SP7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SOX6 | Arina Puzriakova commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SOX18 | Arina Puzriakova commented on gene: SOX18: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SNX10 | Arina Puzriakova commented on gene: SNX10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMS | Arina Puzriakova commented on gene: SMS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMPD4 | Arina Puzriakova commented on gene: SMPD4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCE1 | Arina Puzriakova commented on gene: SMARCE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCC1 | Arina Puzriakova commented on gene: SMARCC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SLC6A9 | Arina Puzriakova commented on gene: SLC6A9: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SLC5A7 | Arina Puzriakova commented on gene: SLC5A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SLC29A3 | Arina Puzriakova commented on gene: SLC29A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SLC25A19 | Arina Puzriakova commented on gene: SLC25A19: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SLC18A3 | Arina Puzriakova commented on gene: SLC18A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SIX6 | Arina Puzriakova commented on gene: SIX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SHANK3 | Arina Puzriakova commented on gene: SHANK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SGCG | Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SERPINH1 | Arina Puzriakova commented on gene: SERPINH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SERPINF1 | Arina Puzriakova commented on gene: SERPINF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SCN1A | Arina Puzriakova commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RRAS2 | Arina Puzriakova commented on gene: RRAS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RPS7 | Arina Puzriakova commented on gene: RPS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RPS24 | Arina Puzriakova commented on gene: RPS24: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RPL35A | Arina Puzriakova commented on gene: RPL35A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RPL10 | Arina Puzriakova commented on gene: RPL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ROBO3 | Arina Puzriakova commented on gene: ROBO3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RFT1 | Arina Puzriakova commented on gene: RFT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RBM10 | Arina Puzriakova commented on gene: RBM10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RBBP8 | Arina Puzriakova commented on gene: RBBP8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RAB33B | Arina Puzriakova commented on gene: RAB33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PYGM | Arina Puzriakova commented on gene: PYGM: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PTPN14 | Arina Puzriakova commented on gene: PTPN14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PRUNE1 | Arina Puzriakova commented on gene: PRUNE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PRKAG2 | Arina Puzriakova commented on gene: PRKAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PRIM1 | Arina Puzriakova commented on gene: PRIM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | POP1 | Arina Puzriakova commented on gene: POP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | POLR1B | Arina Puzriakova commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | POLR1A | Arina Puzriakova commented on gene: POLR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | POLG2 | Arina Puzriakova commented on gene: POLG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PNPLA1 | Arina Puzriakova commented on gene: PNPLA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PLG | Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PLAG1 | Arina Puzriakova commented on gene: PLAG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PITX1 | Arina Puzriakova commented on gene: PITX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PIK3C2A | Arina Puzriakova commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PIH1D3 | Arina Puzriakova commented on gene: PIH1D3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PIGN | Arina Puzriakova commented on gene: PIGN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PIBF1 | Arina Puzriakova commented on gene: PIBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PGM3 | Arina Puzriakova commented on gene: PGM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PFKM | Arina Puzriakova commented on gene: PFKM: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PBX1 | Arina Puzriakova commented on gene: PBX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PAX7 | Arina Puzriakova commented on gene: PAX7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | P4HB | Arina Puzriakova commented on gene: P4HB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | OSGEP | Arina Puzriakova commented on gene: OSGEP: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NXN | Arina Puzriakova commented on gene: NXN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NIPAL4 | Arina Puzriakova commented on gene: NIPAL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NEK8 | Arina Puzriakova commented on gene: NEK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NEDD4L | Arina Puzriakova commented on gene: NEDD4L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NECTIN1 | Arina Puzriakova commented on gene: NECTIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | NADSYN1 | Arina Puzriakova commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYPN | Arina Puzriakova commented on gene: MYPN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYOCD | Arina Puzriakova commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYO9A | Arina Puzriakova commented on gene: MYO9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYO18B | Arina Puzriakova commented on gene: MYO18B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYMK | Arina Puzriakova commented on gene: MYMK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYL1 | Arina Puzriakova commented on gene: MYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYH7 | Arina Puzriakova commented on gene: MYH7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MYH2 | Arina Puzriakova commented on gene: MYH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MSTO1 | Arina Puzriakova commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MSMO1 | Arina Puzriakova commented on gene: MSMO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MRAS | Arina Puzriakova commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MOGS | Arina Puzriakova commented on gene: MOGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MN1 | Arina Puzriakova commented on gene: MN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MESD | Arina Puzriakova commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MEOX1 | Arina Puzriakova commented on gene: MEOX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MEIS2 | Arina Puzriakova commented on gene: MEIS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MAP3K7 | Arina Puzriakova commented on gene: MAP3K7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MAP3K20 | Arina Puzriakova commented on gene: MAP3K20: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | MACF1 | Arina Puzriakova commented on gene: MACF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | LRRC56 | Arina Puzriakova commented on gene: LRRC56: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | LONP1 | Arina Puzriakova commented on gene: LONP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | LMNB2 | Arina Puzriakova commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | LMNB1 | Arina Puzriakova commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | LAMB1 | Arina Puzriakova commented on gene: LAMB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KNL1 | Arina Puzriakova commented on gene: KNL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KLHL7 | Arina Puzriakova commented on gene: KLHL7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KIF5C | Arina Puzriakova commented on gene: KIF5C: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KIF2A | Arina Puzriakova commented on gene: KIF2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KIF14 | Arina Puzriakova commented on gene: KIF14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KIAA0753 | Arina Puzriakova commented on gene: KIAA0753: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | KATNB1 | Arina Puzriakova commented on gene: KATNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ITGA8 | Arina Puzriakova commented on gene: ITGA8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | IFT81 | Arina Puzriakova commented on gene: IFT81: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | IFT52 | Arina Puzriakova commented on gene: IFT52: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | IDH1 | Arina Puzriakova commented on gene: IDH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ICK | Arina Puzriakova commented on gene: ICK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | HMGA2 | Arina Puzriakova commented on gene: HMGA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | HIST1H1E | Arina Puzriakova commented on gene: HIST1H1E: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | HESX1 | Arina Puzriakova commented on gene: HESX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | HADHB | Arina Puzriakova commented on gene: HADHB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GZF1 | Arina Puzriakova commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GSC | Arina Puzriakova commented on gene: GSC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GPC6 | Arina Puzriakova commented on gene: GPC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GMNN | Arina Puzriakova commented on gene: GMNN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GLI1 | Arina Puzriakova commented on gene: GLI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GFPT1 | Arina Puzriakova commented on gene: GFPT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GATA3 | Arina Puzriakova commented on gene: GATA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GANAB | Arina Puzriakova commented on gene: GANAB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FZD2 | Arina Puzriakova commented on gene: FZD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FUT8 | Arina Puzriakova commented on gene: FUT8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FLNC | Arina Puzriakova commented on gene: FLNC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FKBP10 | Arina Puzriakova commented on gene: FKBP10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FIG4 | Arina Puzriakova commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FANCL | Arina Puzriakova commented on gene: FANCL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FAM46A | Arina Puzriakova commented on gene: FAM46A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EXTL3 | Arina Puzriakova commented on gene: EXTL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ENPP1 | Arina Puzriakova commented on gene: ENPP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EMX2 | Arina Puzriakova commented on gene: EMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EML1 | Arina Puzriakova commented on gene: EML1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EIF5A | Arina Puzriakova commented on gene: EIF5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EIF2S3 | Arina Puzriakova commented on gene: EIF2S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | EED | Arina Puzriakova commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DZIP1L | Arina Puzriakova commented on gene: DZIP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DYNC2LI1 | Arina Puzriakova commented on gene: DYNC2LI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DPM3 | Arina Puzriakova commented on gene: DPM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DPM2 | Arina Puzriakova commented on gene: DPM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DONSON | Arina Puzriakova commented on gene: DONSON: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNM2 | Arina Puzriakova commented on gene: DNM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNM1L | Arina Puzriakova commented on gene: DNM1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNAL1 | Arina Puzriakova commented on gene: DNAL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNAJB11 | Arina Puzriakova commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNAI2 | Arina Puzriakova commented on gene: DNAI2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNAAF5 | Arina Puzriakova commented on gene: DNAAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DNAAF2 | Arina Puzriakova commented on gene: DNAAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DLX5 | Arina Puzriakova commented on gene: DLX5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DISP1 | Arina Puzriakova commented on gene: DISP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DIAPH1 | Arina Puzriakova commented on gene: DIAPH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DENND5A | Arina Puzriakova commented on gene: DENND5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | DDX59 | Arina Puzriakova commented on gene: DDX59: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CYP4F22 | Arina Puzriakova commented on gene: CYP4F22: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CYP26B1 | Arina Puzriakova commented on gene: CYP26B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CTU2 | Arina Puzriakova commented on gene: CTU2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CSF1R | Arina Puzriakova commented on gene: CSF1R: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CRIPT | Arina Puzriakova commented on gene: CRIPT: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CREB3L1 | Arina Puzriakova commented on gene: CREB3L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CRADD | Arina Puzriakova commented on gene: CRADD: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COLQ | Arina Puzriakova commented on gene: COLQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COLEC10 | Arina Puzriakova commented on gene: COLEC10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COL13A1 | Arina Puzriakova commented on gene: COL13A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COL12A1 | Arina Puzriakova commented on gene: COL12A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COG6 | Arina Puzriakova commented on gene: COG6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | COG5 | Arina Puzriakova commented on gene: COG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CLP1 | Arina Puzriakova commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CIT | Arina Puzriakova commented on gene: CIT: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CHRNE | Arina Puzriakova commented on gene: CHRNE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CHRNB1 | Arina Puzriakova commented on gene: CHRNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CHRNA3 | Arina Puzriakova commented on gene: CHRNA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CHMP1A | Arina Puzriakova commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CFL2 | Arina Puzriakova commented on gene: CFL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CERS3 | Arina Puzriakova commented on gene: CERS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CEP63 | Arina Puzriakova commented on gene: CEP63: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CEP135 | Arina Puzriakova commented on gene: CEP135: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CENPF | Arina Puzriakova commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CELSR1 | Arina Puzriakova commented on gene: CELSR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CDK8 | Arina Puzriakova commented on gene: CDK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CDK5RAP2 | Arina Puzriakova commented on gene: CDK5RAP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CCDC88C | Arina Puzriakova commented on gene: CCDC88C: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CCDC8 | Arina Puzriakova commented on gene: CCDC8: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CCDC151 | Arina Puzriakova commented on gene: CCDC151: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CASR | Arina Puzriakova commented on gene: CASR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CANT1 | Arina Puzriakova commented on gene: CANT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | CACNA1G | Arina Puzriakova commented on gene: CACNA1G: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | C2CD3 | Arina Puzriakova commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | C21orf59 | Arina Puzriakova commented on gene: C21orf59: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | BNC2 | Arina Puzriakova commented on gene: BNC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | B9D2 | Arina Puzriakova commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | B4GAT1 | Arina Puzriakova commented on gene: B4GAT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | B3GALNT2 | Arina Puzriakova commented on gene: B3GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ATR | Arina Puzriakova commented on gene: ATR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ATP1A2 | Arina Puzriakova commented on gene: ATP1A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARHGAP29 | Arina Puzriakova commented on gene: ARHGAP29: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARFGEF2 | Arina Puzriakova commented on gene: ARFGEF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ANTXR2 | Arina Puzriakova commented on gene: ANTXR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ANKS6 | Arina Puzriakova commented on gene: ANKS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | AMMECR1 | Arina Puzriakova commented on gene: AMMECR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | AMACR | Arina Puzriakova commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ALOXE3 | Arina Puzriakova commented on gene: ALOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ALOX12B | Arina Puzriakova commented on gene: ALOX12B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ALG2 | Arina Puzriakova commented on gene: ALG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | AKT2 | Arina Puzriakova commented on gene: AKT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | AHCY | Arina Puzriakova commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ADAMTS3 | Arina Puzriakova commented on gene: ADAMTS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ABL1 | Arina Puzriakova commented on gene: ABL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.827 | RAC3 |
Rhiannon Mellis gene: RAC3 was added gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 30293988; 29276006 Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAC3 was set to GREEN Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child. Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients. All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance). Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family. Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006). Sources: Literature, Expert Review, NHS GMS |
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Fetal anomalies v1.826 | CNBP | Arina Puzriakova commented on gene: CNBP: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. Confirmed with Rhiannon Mellis (GOSH) that the CNBP gene should remain as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.214 | GREB1L |
Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request. PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis. |
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Fetal anomalies v1.165 | NUP88 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects. NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag. |
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Fetal anomalies v1.106 | TMEM94 | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.95 | B9D2 |
Rhiannon Mellis gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to PMID: 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481) 2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869) NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH. Sources: Literature, NHS GMS |
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Fetal anomalies v1.95 | TMEM107 |
Rhiannon Mellis gene: TMEM107 was added gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381 Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI Review for gene: TMEM107 was set to GREEN gene: TMEM107 was marked as current diagnostic Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494) 1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474) 1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381) NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH Sources: Literature, NHS GMS |
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Fetal anomalies v1.88 | TUBA8 | Catherine Snow Added comment: Comment on list classification: Change from Amber to Green, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.87 | SMG9 | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.86 | PSAT1 | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.85 | POLE | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.84 | GREB1L | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.83 | EXOC3L2 | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.82 | CEP55 | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.81 | ALG9 | Catherine Snow Added comment: Comment on list classification: Change from Green to Amber as requested by NHSE for sign-off panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.224 | ASCC1 | Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases from Julia Baptista's review to support inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NHS | Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NHS | Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | NHS | Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED for gene: NHS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME |